Canonical Allele Identifier: CA2739279224

Gene: WRN

Linked Data

• ClinVar Variation Id: 2837286
• ClinVar RCV Id: RCV003614006

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173022_31173023dup , CM000670.2:g.31173022_31173023dup	GRCh38
NC_000008.10:g.31030538_31030539dup , CM000670.1:g.31030538_31030539dup	GRCh37
NC_000008.9:g.31150080_31150081dup	NCBI36
NG_008870.1:g.144761_144762dup , LRG_524:g.144761_144762dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.4219_4220dup MANE Select	ENSP00000298139.5:p.Leu1407PhefsTer16
ENST00000650667.1:c.*3833_*3834dup	ENSP00000498593.1:n.*3833_*3834dup
ENST00000651946.1:n.443_444dup
ENST00000298139.5:c.4219_4220dup	ENSP00000298139.5:p.Leu1407PhefsTer16
ENST00000521620.5:n.2852_2853dup
NM_000553.4:c.4219_4220dup , LRG_524t1:c.4219_4220dup	NP_000544.2:p.Leu1407PhefsTer16
XM_011544639.1:c.4138_4139dup	XP_011542941.1:p.Leu1380PhefsTer16
XM_011544640.1:c.2620_2621dup	XP_011542942.1:p.Leu874PhefsTer16
XR_949643.1:n.88-1705_88-1704dup
XR_949644.1:n.88-1705_88-1704dup
XR_949645.1:n.88-1705_88-1704dup
XR_949646.1:n.88-1705_88-1704dup
XR_949647.1:n.701-1705_701-1704dup
XR_949648.1:n.603-1705_603-1704dup
NM_000553.5:c.4219_4220dup	NP_000544.2:p.Leu1407PhefsTer16
XM_011544639.3:c.4138_4139dup	XP_011542941.1:p.Leu1380PhefsTer16
XM_024447265.1:c.4009_4010dup	XP_024303033.1:p.Leu1337PhefsTer16
NM_000553.6:c.4219_4220dup MANE Select	NP_000544.2:p.Leu1407PhefsTer16